Resultados da busca - Guillermo del Angel

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  1. 1
    Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia

    Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia por Guillermo del Angel, John Reynders, Christopher Negron, Thomas Steinbrecher, Étienne Mornet

    Publicado em 2020
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  2. 2
    Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification

    Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification por Héctor Martín Merinero, Yuzhou Zhang, Emilia Arjona, Guillermo del Angel, Renee X. Goodfellow, Elena Gómez-Rubio, Rui‐Ru Ji, Malkoa Michelena, Richard J. Smith, Santiago Rodrı́guez de Córdoba

    Publicado em 2021
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  3. 3
    Representation Learning of Human Disease Mechanisms for a Foundation Model in Rare and Common Diseases

    Representation Learning of Human Disease Mechanisms for a Foundation Model in Rare and Common Diseases por Babak Ravandi, William R. Mowrey, Aparajita Chatterjee, Parham Haddadi, Mario Abdelmessih, Wei Ding, Simon Lambden, M. Ughetto, Ian P. Barrett, Tom Diethe, Guillermo del Angel, Tina Eliassi‐Rad, Piero Ricchiuto

    Publicado em 2024
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  4. 4
    From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

    From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline por Géraldine A. Van der Auwera, Mauricio O. Carneiro, Christopher Hartl, Ryan Poplin, Guillermo del Angel, Ami Levy‐Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault, Eric Banks, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark A. DePristo

    Publicado em 2013
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  5. 5
    A framework for variation discovery and genotyping using next-generation DNA sequencing data

    A framework for variation discovery and genotyping using next-generation DNA sequencing data por Mark A. DePristo, Eric Banks, Ryan Poplin, Kiran Garimella, Jared Maguire, Christopher Hartl, Anthony Philippakis, Guillermo del Angel, Manuel A. Rivas, Matt Hanna, Aaron McKenna, Tim Fennell, Andrew Kernytsky, Andrey Sivachenko, Kristian Cibulskis, Stacey Gabriel, David Altshuler, Mark J. Daly

    Publicado em 2011
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  6. 6
    The Global ALPL gene variant classification project: Dedicated to deciphering variants

    The Global ALPL gene variant classification project: Dedicated to deciphering variants por Mariam R. Farman, Catherine Rehder, Theodora Malli, Cheryl R. Greenberg, Kathryn Dahir, Gabriel Ángel Martos‐Moreno, Agnès Linglart, Keiichi Ozono, Lothar Seefried, Guillermo del Angel, Gerald Webersinke, Francesca Barbazza, Lisa K. John, Sewmi M A Delana Mudiyanselage, Florian Högler, Erica B. Nading, Erin Huggins, Eric T. Rush, Ahmed El‐Gazzar, Priya S. Kishnani, Wolfgang Högler

    Publicado em 2023
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  7. 7
    Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson’s disease

    Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson’s disease por Thomas P Spargo, Chloe F. Sands, Isabella R. Juan, Jonathan Mitchell, Vida Ravanmehr, Jessica C. Butts, Ruth B. De-Paula, Young-Doo Kim, Fengyuan Hu, Quanli Wang, Dimitrios Vitsios, Manik Garg, Lawrence Middleton, Michal Tyrlik, Mirko Messa, Guillermo del Angel, Daniel G. Calame, Hiba Saade, Laurie Robak, Ben Hollis, Vishnu Anand Cuddapah, Huda Y. Zoghbi, Joshua M. Shulman, Slavé Petrovski, Ismael Al‐Ramahi, Ioanna Tachmazidou, Ryan S. Dhindsa

    Publicado em 2025
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  8. 8
    A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

    A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases por Stephen F. Kingsmore, Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Serge Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, David Dimmock, Yan Ding, Katarzyna A. Ellsworth, Annette Feigenbaum, Erwin Frise, Robert C. Green, Lucia Guidugli, Kevin P. Hall, Christian Holm Hansen, Charlotte A. Hobbs, Scott D. Kahn, Mark J. Kiel, Lucita Van Der Kraan, Chad Krilow, Yong Hyun Kwon, Lakshminarasimha Madhavrao, Jennie Le, Sébastien Lefebvre, Rebecca Mardach, William R. Mowrey, Danny Oh, Mallory Owen, George S. Powley, Gunter Scharer, Seth Shelnutt, Mari Tokita, Shyamal Mehtalia, Albert Oriol, Stavros Papadopoulos, James C. Perry, Edwin F. Juarez, Erica Sanford Kobayashi, Steven J. Schwartz, Duke Tran, Martin G. Reese, Meredith S. Wright, Narayanan Veeraraghavan, Kristen Wigby, Mary Willis, Aaron R. Wolen, Thomas Defay

    Publicado em 2022
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  9. 9
    Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences

    Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences por Oliver S. Burren, Ryan S. Dhindsa, Sri V. V. Deevi, Sean Wen, Abhishek Nag, Jonathan Mitchell, Fengyuan Hu, Douglas P. Loesch, Katherine R. Smith, Neetu Razdan, Henric Olsson, Adam Platt, Dimitrios Vitsios, Qiang Wu, Rasmus Ågren, Lauren Anderson-Dring, Santosh S. Atanur, David H. Baker, Maria G. Belvisi, Mohammad Bohlooly‐Y, Lisa Buvall, Sophia Cameron‐Christie, E. Suzanne Cohen, Regina Fritsche Danielson, Shikta Das, Andrew Davis, Guillermo del Angel, Wei Ding, Brian Dougherty, Zammy Fairhurst-Hunter, Manik Garg, Benjamin Georgi, Carmen Guerrero Rangel, Andrew R. Harper, Carolina Haefliger, Mårten Hammar, Richard N. Hanna, Pernille Hansen, Jennifer Harrow, Ian Henry, Sonja Hess, Ben Hollis, Jiang Xiao, Kousik Kundu, Zhongwu Lai, Mark Lal, Glenda Lassi, Yupu Liang, Margarida Lopes, Eagle Lou, Kieren Lythgow, Stewart MacArthur, Meeta Maisuria-Armer, Ruth March, Carla Martins, Dorota Matelska, Karyn Mégy, Robert Menzies, Erik Michaëlsson, Fiona K. Middleton, Bill Mowrey, Daniel Muthas, Sean M. O’Dell, Erin Oerton, Yoichiro Ohne, Henric Olsson, Amanda O’Neill, Kristoffer Ostridge, Dirk S. Paul, Bram P. Prins, Benjamin Pullman, William Rae, Arwa Bin Raies, Anna Reznichenko, Xavier Romero Ros, Hitesh J. Sanganee, Ben S. Sidders, Mike Snowden, Stasa Stankovic, Helen Stevens, Ioanna Tachmazidou, Haeyam Taiy, Lifeng Tian, Christina Underwood, Coralie Viollet, Anna Walentinsson, Lily Wang, Qing‐Dong Wang, Eleanor Wheeler, Ahmet Zehir, Zoe Zou, Veryan Codd, Christopher P. Nelson, Nilesh J. Samani, Ruth March, Sebastian Wasilewski, Keren Carss, Margarete A. Fabre, Quanli Wang, Menelas N. Pangalos

    Publicado em 2024
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  10. 10
    Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

    Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel por Olivier Delaneau, Jonathan Marchini, Gil McVean, Peter Donnelly, Gerton Lunter, Jonathan Marchini, Simon Myers, Anjali Gupta Hinch, Zamin Iqbal, Iain Mathieson, Andy Rimmer, Dionysia K. Xifara, Angeliki Kerasidou, Claire Churchhouse, Olivier Delaneau, David Altshuler, Stacey Gabriel, Eric S. Lander, Namrata Gupta, Mark J. Daly, Mark A. DePristo, Eric Banks, Gaurav Bhatia, Mauricio O. Carneiro, Guillermo del Angel, Giulio Genovese, Robert E. Handsaker, Chris Hart, Steven A. McCarroll, James Nemesh, Ryan Poplin, S. F. Schaffner, Khalid Shakir, Pardis C. Sabeti, Sharon R. Grossman, Shervin Tabrizi, Ridhi Tariya, Heng Li, David Reich, Richard Durbin, Matthew E. Hurles, Senduran Balasubramaniam, John H. Burton, Petr Danecek, Thomas Keane, Anja Kolb-Kokocinski, Shane McCarthy, James Stalker, Michael A. Quail, Qasim Ayub, Yuan Chen, Alison J. Coffey, Vincenza Colonna, Ni Huang, Luke Jostins, Aylwyn Scally, Klaudia Walter, Yali Xue, Goo Jun, Ben Blackburne, Sarah Lindsay, Zemin Ning, Adam Frankish, Jennifer Harrow, Chris Tyler‐Smith, Gonalo R. Abecasis, Hyun Min Kang, Paul Anderson, Tom Blackwell, Fabio Busonero, Christian Fuchsberger, Goo Jun, Andrea Maschio, Eleonora Porcu, Carlo Sidore, Adrian Tan, Mary Kate Trost, David Bentley, Russell Grocock, Sean Humphray, Terena James, Zoya Kingsbury, Markus Bauer, R. Keira Cheetham, Tony Cox, Michael A. Eberle, Lisa Murray, Richard J. Shaw, Aravinda Chakravarti, Andrew G. Clark, Alon Keinan, Juan L. Rodriguez‐Flores, Francisco M. De La Vega, Jeremiah D. Degenhardt, Evan E. Eichler, Paul Flicek, Laura Clarke, Rasko Leinonen, Richard E. Smith, Xiangqun Zheng-Bradley

    Publicado em 2014
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